Dissecting the genetic and etiological causes of primary microcephaly

F Jean, A Stuart, M Tarailo-Graovac - Frontiers in neurology, 2020 - frontiersin.org
Autosomal recessive primary microcephaly (MCPH;“small head syndrome”) is a rare,
heterogeneous disease arising from the decreased production of neurons during brain …

Autosomal recessive primary microcephaly: not just a small brain

S Zaqout, AM Kaindl - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
Microcephaly or reduced head circumference results from a multitude of abnormal
developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …

The multifaceted roles of primary cilia in the development of the cerebral cortex

K Hasenpusch-Theil, T Theil - Frontiers in cell and developmental …, 2021 - frontiersin.org
The primary cilium, a microtubule based organelle protruding from the cell surface and
acting as an antenna in multiple signaling pathways, takes center stage in the formation of …

Primary cilia and centrosomes in neocortex development

M Wilsch-Bräuninger, WB Huttner - Frontiers in neuroscience, 2021 - frontiersin.org
During mammalian brain development, neural stem and progenitor cells generate the
neurons for the six-layered neocortex. The proliferative capacity of the different types of …

Hedgehog signaling and the primary cilium: implications for spatial and temporal constraints on signaling

EK Ho, T Stearns - Development, 2021 - journals.biologists.com
The mechanisms of vertebrate Hedgehog signaling are linked to the biology of the primary
cilium, an antenna-like organelle that projects from the surface of most vertebrate cell types …

LPA signaling acts as a cell-extrinsic mechanism to initiate cilia disassembly and promote neurogenesis

HB Hu, ZQ Song, GP Song, S Li, HQ Tu, M Wu… - Nature …, 2021 - nature.com
Dynamic assembly and disassembly of primary cilia controls embryonic development and
tissue homeostasis. Dysregulation of ciliogenesis causes human developmental diseases …

Neuronal cilia in energy homeostasis

KM Brewer, KK Brewer, NC Richardson… - Frontiers in Cell and …, 2022 - frontiersin.org
A subset of genetic disorders termed ciliopathies are associated with obesity. The
mechanisms behind cilia dysfunction and altered energy homeostasis in these syndromes …

Centrosome defects cause microcephaly by activating the 53BP1‐USP28‐TP53 mitotic surveillance pathway

TP Phan, AL Maryniak, CA Boatwright, J Lee… - The EMBO …, 2021 - embopress.org
Mutations in centrosome genes deplete neural progenitor cells (NPCs) during brain
development, causing microcephaly. While NPC attrition is linked to TP53‐mediated cell …

Primary cilia influence progenitor function during cortical development

D Zaidi, K Chinnappa, F Francis - Cells, 2022 - mdpi.com
Corticogenesis is an intricate process controlled temporally and spatially by many intrinsic
and extrinsic factors. Alterations during this important process can lead to severe cortical …

The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development

B Shohayeb, U Ho, YY Yeap, RG Parton… - Human molecular …, 2020 - academic.oup.com
WDR62 mutations that result in protein loss, truncation or single amino-acid substitutions are
causative for human microcephaly, indicating critical roles in cell expansion required for …